Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.120 | 1 | 203700807 | missense variant | T/C | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.120 | 3 | 8745701 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 7 | 150947683 | frameshift variant | GG/T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 1 | 162267300 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 14 | 90404691 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 150951110 | stop gained | A/C;G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 2 | 47160802 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.160 | 6 | 26092760 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 2572981 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.882 | 0.120 | 11 | 2572963 | missense variant | G/A | snv | 4.8E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.120 | 11 | 2445448 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 7 | 150974825 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 1.000 | 0.120 | 7 | 150958295 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.882 | 0.120 | 3 | 38603758 | missense variant | C/T | snv | 2.9E-04 | 2.9E-04 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.120 | 6 | 38737083 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 83661523 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 12 | 2688616 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 3 | 38550988 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 3 | 38550989 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 7 | 150950989 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 7 | 150957380 | missense variant | G/A | snv | 1.1E-03 | 6.3E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.120 | 20 | 33412702 | missense variant | G/A | snv | 1.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 7 | 150959602 | missense variant | G/A;T | snv | 1.2E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 4 | 113373391 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
2 | 0.925 | 0.160 | 11 | 17470170 | missense variant | T/C | snv | 2.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |